Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
36914876
TITLE
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.
ABSTRACT
Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN and NGF). We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention.
© 2023. The Author(s), under exclusive licence to Springer Nature America, Inc.
DATE PUBLISHED
2023 Mar
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2021/12/01
accepted 2023/01/27
entrez 2023/03/14 00:48
pubmed 2023/03/15 06:00
medline 2023/03/16 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Rahmioglu N Rahmioglu Nilufer N Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK. nilufer.rahmioglu@well.ox.ac.uk.
Mortlock S Mortlock Sally S The Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Ghiasi M Ghiasi Marzieh M Department of Epidemiology, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.
Møller PL Møller Peter L PL Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Stefansdottir L Stefansdottir Lilja L deCODE genetics/Amgen, Reykjavik, Iceland.
Galarneau G Galarneau Geneviève G Celmatix Inc., New York, NY, USA.
Turman C Turman Constance C Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Danning R Danning Rebecca R Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Law MH Law Matthew H MH School of Biomedical Sciences, Faculty of Health, and Institute of health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove, Queensland, Australia.
Sapkota Y Sapkota Yadav Y Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.
Christofidou P Christofidou Paraskevi P Department of Twin Research and Genetic Epidemiology, St. Thomas' Hospital, Kings College London, London, UK.
Skarp S Skarp Sini S Northern Finland Birth Cohorts, Faculty of Medicine, University of Oulu, Oulu, Finland.
Giri A Giri Ayush A Department of Obstetrics and Gynecology, Institute of Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Banasik K Banasik Karina K Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Krassowski M Krassowski Michal M Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Lepamets M Lepamets Maarja M Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Marciniak B Marciniak Błażej B Biobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Łódź, Poland.
Nõukas M Nõukas Margit M Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Perro D Perro Danielle D Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Sliz E Sliz Eeva E Biocenter Oulu, University of Oulu, Oulu, Finland.
Sobalska-Kwapis M Sobalska-Kwapis Marta M Biobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Łódź, Poland.
Thorleifsson G Thorleifsson Gudmar G deCODE genetics/Amgen, Reykjavik, Iceland.
Topbas-Selcuki NF Topbas-Selcuki Nura F NF Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Vitonis A Vitonis Allison A Obstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Westergaard D Westergaard David D Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Arnadottir R Arnadottir Ragnheidur R Department of Obstetrics and Gynecology, Landspitali University Hospital, Reykjavik, Iceland.
Burgdorf KS Burgdorf Kristoffer S KS Department of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.
Campbell A Campbell Archie A Centre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.
Cheuk CSK Cheuk Cecilia S K CSK Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Clementi C Clementi Caterina C Celmatix Inc., New York, NY, USA.
Cook J Cook James J Department of Biostatistics, University of Liverpool, Liverpool, UK.
De Vivo I De Vivo Immaculata I Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
DiVasta A DiVasta Amy A Division of Adolescent and Young Adult Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Dorien O Dorien O O KULeuven (University of Leuven), Department of Development and Regeneration, Organ systems, Leuven, Belgium.
Donoghue JF Donoghue Jacqueline F JF University of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.
Edwards T Edwards Todd T Department of Obstetrics and Gynecology, Institute of Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Fontanillas P Fontanillas Pierre P 23andMe, Inc., Sunnyvale, CA, USA.
Fung JN Fung Jenny N JN The Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Geirsson RT Geirsson Reynir T RT Department of Obstetrics and Gynecology, Landspitali University Hospital, Reykjavik, Iceland.
Girling JE Girling Jane E JE Department of Anatomy, School of Biomedical Sciences, University of Otago, Otago, New Zealand.
Harkki P Harkki Paivi P Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Harris HR Harris Holly R HR Program in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Healey M Healey Martin M University of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.
Heikinheimo O Heikinheimo Oskari O Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Holdsworth-Carson S Holdsworth-Carson Sarah S University of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.
Hostettler IC Hostettler Isabel C IC Department of Neurosurgery, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Houlden H Houlden Henry H Neurogenetics Laboratory, The National Hospital of Neurology and Neurosurgery, London, UK.
Houshdaran S Houshdaran Sahar S Center for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
Irwin JC Irwin Juan C JC Center for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
Jarvelin MR Jarvelin Marjo-Riitta MR Department of Life Sciences, College of Health and Life Sciences, Brunel University London, Uxbridge, UK.
Kamatani Y Kamatani Yoichiro Y Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Kennedy SH Kennedy Stephen H SH Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Kepka E Kepka Ewa E Biobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Łódź, Poland.
Kettunen J Kettunen Johannes J Institute for Health and Welfare, Helsinki, Finland.
Kubo M Kubo Michiaki M Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Kulig B Kulig Bartosz B Department of Operative Gynecology and Oncological Gynecology, Polish Mother's Memorial Hospital-Research Institute, Łódź, Poland.
Kurra V Kurra Venla V Faculty of Medicine and Health Technology, University of Tampere, Tampere, Finland.
Laivuori H Laivuori Hannele H Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
Laufer MR Laufer Marc R MR Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Lindgren CM Lindgren Cecilia M CM Big Data Institute at the Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
MacGregor S MacGregor Stuart S Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.
Mangino M Mangino Massimo M NIHR Biomedical Research Centre at Guy's and St Thomas' Foundation Trust, London, UK.
Martin NG Martin Nicholas G NG Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Matalliotaki C Matalliotaki Charoula C Third Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Matalliotakis M Matalliotakis Michail M Third Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Murray AD Murray Alison D AD The Institute of Medical Sciences, Aberdeen Biomedical Imaging Centre, University of Aberdeen, Aberdeen, UK.
Ndungu A Ndungu Anne A Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Nezhat C Nezhat Camran C Center For Special Minimally Invasive and Robotic Surgery, Camran Nezhat Institute, Palo Alto, CA, USA.
Olsen CM Olsen Catherine M CM Department of Population Health, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Opoku-Anane J Opoku-Anane Jessica J Center for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
Padmanabhan S Padmanabhan Sandosh S Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK.
Paranjpe M Paranjpe Manish M Bakar Computational Health Sciences Institute, University of California, San Francisco, CA, USA.
Peters M Peters Maire M Competence Centre on Health Technologies, Tartu, Estonia.
Polak G Polak Grzegorz G 1st Department of Oncological Gynecology and Gynecology, Medical University of Lublin, Lublin, Poland.
Porteous DJ Porteous David J DJ Centre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.
Rabban J Rabban Joseph J Department of Pathology, University of California, San Francisco, CA, USA.
Rexrode KM Rexrode Kathyrn M KM Harvard Medical School, Boston, MA, USA.
Romanowicz H Romanowicz Hanna H Laboratory of Cancer Genetics, Department of Clinical Pathomorphology, Polish Mother's Memorial Hospital-Research Institute, Łódź, Poland.
Saare M Saare Merli M Competence Centre on Health Technologies, Tartu, Estonia.
Saavalainen L Saavalainen Liisu L Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Schork AJ Schork Andrew J AJ Neurogenomics Division, The Translational Genomics Research Institute (TGEN), Phoenix, AZ, USA.
Sen S Sen Sushmita S Center for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
Shafrir AL Shafrir Amy L AL Division of Adolescent and Young Adult Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Siewierska-Górska A Siewierska-Górska Anna A Computational Medicine and Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.
Słomka M Słomka Marcin M Computational Medicine and Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.
Smith BH Smith Blair H BH Division of Population Health and Genomics, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.
Smolarz B Smolarz Beata B Laboratory of Cancer Genetics, Department of Clinical Pathomorphology, Polish Mother's Memorial Hospital-Research Institute, Łódź, Poland.
Szaflik T Szaflik Tomasz T Department of Operative Gynecology and Oncological Gynecology, Polish Mother's Memorial Hospital-Research Institute, Łódź, Poland.
Szyłło K Szyłło Krzysztof K Department of Operative Gynecology and Oncological Gynecology, Polish Mother's Memorial Hospital-Research Institute, Łódź, Poland.
Takahashi A Takahashi Atsushi A Research Institute, National Cerebral and Cardiovascular Center, Osaka, Japan.
Terry KL Terry Kathryn L KL Obstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Tomassetti C Tomassetti Carla C KULeuven (University of Leuven), Department of Development and Regeneration, Organ systems, Leuven, Belgium.
Treloar SA Treloar Susan A SA Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Vanhie A Vanhie Arne A KULeuven (University of Leuven), Department of Development and Regeneration, Organ systems, Leuven, Belgium.
Vincent K Vincent Katy K Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Vo KC Vo Kim C KC Center for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
Werring DJ Werring David J DJ Stroke Research Centre, University College London, Institute of Neurology, London, UK.
Zeggini E Zeggini Eleftheria E TUM School of Medicine, Technical University of Munich and Klinikum Rechts der Isar, Munich, Germany.
Zervou MI Zervou Maria I MI Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, Heraklion, Greece.
DBDS Genomic Consortium
FinnGen Study
FinnGen Endometriosis Taskforce
Celmatix Research Team
23andMe Research Team
Adachi S Adachi Sosuke S Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Buring JE Buring Julie E JE Harvard Medical School, Boston, MA, USA.
Ridker PM Ridker Paul M PM Harvard Medical School, Boston, MA, USA.
D'Hooghe T D'Hooghe Thomas T Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, New Haven, CT, USA.
Goulielmos GN Goulielmos George N GN Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, Heraklion, Greece.
Hapangama DK Hapangama Dharani K DK Department of Women's and Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.
Hayward C Hayward Caroline C MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.
Horne AW Horne Andrew W AW MRC Centre for Reproductive Health, University of Edinburgh Institute for Regeneration and Repair, Edinburgh, UK.
Low SK Low Siew-Kee SK Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, Tokyo, Japan.
Martikainen H Martikainen Hannu H Medical Research Center Oulu, Oulu University Hospital, Oulu, Finland.
Chasman DI Chasman Daniel I DI Harvard Medical School, Boston, MA, USA.
Rogers PAW Rogers Peter A W PAW University of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.
Saunders PT Saunders Philippa T PT Centre for Inflammation Research, University of Edinburgh, Institute for Regeneration and Repair, Edinburgh, UK.
Sirota M Sirota Marina M Department of Pediatrics, University of California, San Francisco, CA, USA.
Spector T Spector Tim T Department of Twin Research and Genetic Epidemiology, St. Thomas' Hospital, Kings College London, London, UK.
Strapagiel D Strapagiel Dominik D Biobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Łódź, Poland.
Tung JY Tung Joyce Y JY 23andMe, Inc., Sunnyvale, CA, USA.
Whiteman DC Whiteman David C DC Department of Population Health, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Giudice LC Giudice Linda C LC Center for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
Velez-Edwards DR Velez-Edwards Digna R DR Department of Obstetrics and Gynecology, Institute of Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Uimari O Uimari Outi O Medical Research Center Oulu, Oulu University Hospital, Oulu, Finland.
Kraft P Kraft Peter P Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Salumets A Salumets Andres A Division of Obstetrics and Gynecology, Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
Nyholt DR Nyholt Dale R DR School of Biomedical Sciences, Faculty of Health, and Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, Queensland, Australia.
Mägi R Mägi Reedik R Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Stefansson K Stefansson Kari K Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Becker CM Becker Christian M CM Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Yurttas-Beim P Yurttas-Beim Piraye P Celmatix Inc., New York, NY, USA.
Steinthorsdottir V Steinthorsdottir Valgerdur V deCODE genetics/Amgen, Reykjavik, Iceland.
Nyegaard M Nyegaard Mette M Department of Health, Science and Technology, Aalborg University, Aalborg, Denmark.
Missmer SA Missmer Stacey A SA Department of Obstetrics, Gynecology, and Reproductive Biology, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.
Montgomery GW Montgomery Grant W GW The Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Morris AP Morris Andrew P AP Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, The University of Manchester, Manchester, UK.
Zondervan KT Zondervan Krina T KT Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK. krina.zondervan@wrh.ox.ac.uk.
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
Stefansson Kari K
Nyegaard Mette M
Harkki Paivi P
Heikinheimo Oskari O
Kettunen Johannes J
Kurra Venla V
Laivuori Hannele H
Uimari Outi O
Galarneau Geneviève G
Clementi Caterina C
Yurttas-Beim Piraye P
Fontanillas Pierre P
Tung Joyce Y JY
JOURNAL
VOLUME: 55
ISSUE: 3
TITLE: Nature genetics
ISOABBREVIATION: Nat Genet
YEAR: 2023
MONTH: Mar
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1546-1718
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Genet
COUNTRY: United States
ISSNLINKING: 1061-4036
NLMUNIQUEID: 9216904
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Meta-Analysis
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
R01 HD089511 NICHD NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Female
Humans
Endometriosis metabolism
Genetic Predisposition to Disease metabolism
Genome-Wide Association Study metabolism
Pain metabolism
Comorbidity metabolism
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
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